NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085
|
0.00004
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_022124.6(CDH23):c.7362+5G>A
|
rs727502931
|
0.00001
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
0.00001
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
MYO7A, IVS27AS, G-C, -1
|
|
|
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)
|
rs121965082
|
|
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)
|
rs121965083
|
|
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)
|
rs121965079
|
|
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del)
|
rs1555062984
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_000260.4(MYO7A):c.[3256del;3260T>C]
|
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter)
|
rs137853004
|
|
NM_001384140.1(PCDH15):c.3718-2A>G
|
rs1307471318
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)
|
rs145415848
|
|
NM_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861
|
|
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)
|
rs796051860
|
|
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)
|
rs121908350
|
|
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)
|
rs121908347
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_153676.4(USH1C):c.2227-1G>A
|
rs778110397
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.36+1G>T
|
rs1403777293
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9]
|
rs55983148
|
|
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)
|
rs104894652
|
|
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)
|
rs104894651
|
|
NM_173477.5(USH1G):c.163_164+13del
|
|
|
NM_173477.5(USH1G):c.186_187del (p.Ile63fs)
|
rs730880268
|
|
NM_173477.5(USH1G):c.394dup (p.Val132fs)
|
rs587776546
|
|
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
|
rs397515345
|
|